Genetics and Molecular Biology (Aug 2017)

Combined genotypes of the MBL2 gene related to low mannose-binding lectin levels are associated with vaso-occlusive events in children with sickle cell anemia

  • Fernanda Silva Medeiros,
  • Taciana Furtado de Mendonça,
  • Katiuscia Araújo de Miranda Lopes,
  • Laís Medeiros da Câmara França,
  • Andreia Soares da Silva,
  • Luydson Richardson Silva Vasconcelos,
  • Maria do Carmo Valgueiro Costa de Oliveira,
  • Ana Cláudia Mendonça dos Anjos,
  • Betânia Lucena Domingues Hatzlhofer,
  • Marcos André Cavalcanti Bezerra,
  • Aderson da Silva Araújo,
  • Patrícia Moura,
  • Maria do Socorro de Mendonça Cavalcanti

DOI
https://doi.org/10.1590/1678-4685-gmb-2016-0161
Journal volume & issue
Vol. 40, no. 3
pp. 600 – 603

Abstract

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Abstract Sickle cell anemia (SCA) presents heterogenous clinical manifestations that cannot be explained solely by alterations to hemoglobin (Hb); other components such as endothelial adhesion, thrombosis and inflammation may be involved. The mannose-binding lectin (MBL) has an important role in innate immunity and inflammatory diseases. In this report, we describe an association between MBL2 polymorphism related to low production of serum MBL and the frequency of vasoocclusive events (FVOE) in children ≤ 5 years old with SCA (p = 0.0229; OR 5.55; CI 1.11-27.66). Further studies are needed to explore the role of low MBL2 in the pathophysiology of vasoocclusive events in SCA.

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